Variant NM_000492.4:c.*2G>C
Name | NM_000492.4:c.*2G>C |
Protein name | NP_000483.3:p.(=) |
Genomic name (hg19) | chr7:g.117307164G>C UCSC gnomAD |
#Exon/intron | UTR 3 |
Class | VUS |
WT sequence | GAGGTGCAAGATACAAGGCTTTAGA G AGCAGCATAAATGTTGACATGGGAC |
Mutant sequence | GAGGTGCAAGATACAAGGCTTTAGA C AGCAGCATAAATGTTGACATGGGAC |
Not found | Not found | dbSNP no rs | Not found |
No patient found in CFTR-NGS catalogue |
TOTAL NUMBER OF PATIENTS | 1 |
---|---|
Pending non-CF | 1 |
Phenotype | Patient ID | Variant status | Additional variants |
---|---|---|---|
Pending non-CF | 5009 | heterozygote | CF-causing - Trans |
Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing |
CFTR variants are clustered into five groups: |
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